Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_provenance.
- NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_assertion description "[Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_provenance.
- NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_assertion evidence source_evidence_curated NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_provenance.
- NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_assertion SIO_000772 17546030 NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_provenance.
- NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_assertion wasDerivedFrom ctd_human-2016 NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_provenance.
- NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_assertion wasGeneratedBy ECO_0000218 NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP19954.RAMorPbeGoMEGMAXkoRPQHd0zeZQF1dYGBOtWzguEINNE130_provenance.